MyPACS.net: Radiology Teaching Files > Case 30009315

previously visited 090721 INBORN ERROR OF UREA CYCLE WITH CITRULLINEMIA LEADING TO BRAIN EDEMA
Contributed by: pedrad CSH, Radiologist, Chung Shan Medical University Hospital, Taiwan.
Patient: 10 day old female
History:

Chief complain:
Focal seizures with clonic movements in the forearms 3 days after birth
Progressive counsciousness disturbacne to coma
Lab data:
Metabolic acidosis (pH 7.205, pCO2 33mmHg, HCO3 12.8mmol/L, BE -14mmol/L),
hyperkalemia (6.6mmol/L), hyperammonemia (594μmol/L) and citrullinemia.

Birth history:
Elective cesarean section with gestational age 39+6 weeks.
Birthbody weight: 2620gm. G1P1
Apgar score: 8 (at 1st min) to 10 (at 5th min).
Smooth prenatal course.

Images:[small]larger

Fig. 1: DWI_axi

Fig. 2: axi

Fig. 3: DWI_axi

Fig. 4: ADC_axi

Fig. 5: DWI_cor

Fig. 6: ADC_cor

Fig. 7: MRS

Fig. 8: T1WI_FS_Gd_cor
Findings:

1.5 Tesla MRI of brain (7 days after treatment) with T1 weighted
 echo train spin echo, T2 weighted echo train spin echo,
 T2 weighted fluid-attenuated inversion recovery echo train spin
 echo, diffusion-weighted echo-planar MR imaging with apparent
 diffusion coefficient maps, single voxel proton MR spectroscopy,
 chemical shift MR imaging, and with intravenous gadolinium-enhanced
 images:

1. Symmetric long T2 change with restricted water diffusibility
   in brain, chiefly in bilateral corpus striatum (Fig 1,2) and
   cerebral peduncles of midbrain (Fig 3,4), and also including
   bilateral subcortical white matters and insular cortices
   (Fig 5,6), suggesting brain edema.
2. Increased glutamine/glutamate complex (Glx) in bilateral
   corpus striatum without detectable lactate peak (Fig 7).
3. From above findings, disorder of the urea cycle and ammonia
   should be considered firstly.
4. Focal biconvex-shaped short T1 fluid retention in right high
   parietal region, including both intra-skull epidural space
   and extra-skull vault subperiosteal space, without cross
   midline, in favor of epidural hematoma and cephalohematoma
   (Fig 8).

Diagnosis: Inborn error of urea cycle with citrullinemia
Discussion: The patient received blood exchange tranfusion and peritoneal dialysis.
Comments:
No comments posted.
Additional Details:

Case Number: 30009315Last Updated: 08-05-2009
Anatomy: Cranium and Contents   Pathology: Metabolic
Modality: MRAccess Level: Readable by all users
Keywords: inborn error, urea cycle, citrullinemia, mrsACR: 18.599

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